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European Journal of Human Genetics : EJHG|December 20, 2012
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotypeZafar Iqbal, Mohsin Shahzad, Lisenka E L M Vissers, et al.Molecular Therapy. Nucleic Acids|October 29, 2025
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsyImke M E Schuurmans, Udo Engelke, Muna Abedrabbo, et al.Journal of the American Society of Nephrology : JASN|November 16, 2007
Removal of heparan sulfate from the glomerular basement membrane blocks protein passageTessa J M Wijnhoven, Joost F M Lensen, Ronnie G P Wismans, et al.Brain Communications|November 12, 2025
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouseClara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, et al.The Journal of Biological Chemistry|January 24, 2019
Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2Renske J E van den Bijgaart, Michiel Kroesen, Melissa Wassink, et al.Human Molecular Genetics|January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndromeKaren Buysse, Moniek Riemersma, Gareth Powell, et al.Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.Plos Pathogens|March 9, 2019
Desialylation of platelets induced by Von Willebrand Factor is a novel mechanism of platelet clearance in dengueSilvita Fitri Riswari, Rahajeng N Tunjungputri, Vesla Kullaya, et al.The American Journal of Pathology|August 26, 2011
A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylationClaire Jones, Jonas Denecke, Ronald Sträter, et al.Journal of Inherited Metabolic Disease|December 5, 2019
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutationsMarjolein A W van den Boogert, Cleo L Crunelle, Lubna Ali, et al.Pageof 17